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Vascular defects associated with hereditary hemorrhagic telangiectasia revealed in patient-derived isogenic iPSCs in 3D vessels on chip.
Orlova VV, Nahon DM, Cochrane A, Cao X, Freund C, van den Hil F, Westermann CJJ, Snijder RJ, Ploos van Amstel JK, Ten Dijke P, Lebrin F, Mager HJ, Mummery CL. Orlova VV, et al. Among authors: mager hj. Stem Cell Reports. 2022 Jul 12;17(7):1536-1545. doi: 10.1016/j.stemcr.2022.05.022. Epub 2022 Jun 30. Stem Cell Reports. 2022. PMID: 35777360 Free PMC article.
Generation and genetic repair of 2 iPSC clones from a patient bearing a heterozygous c.1120del18 mutation in the ACVRL1 gene leading to Hereditary Hemorrhagic Telangiectasia (HHT) type 2.
Bouma MJ, Orlova V, van den Hil FE, Mager HJ, Baas F, de Knijff P, Mummery CL, Mikkers H, Freund C. Bouma MJ, et al. Among authors: mager hj. Stem Cell Res. 2020 Jul;46:101786. doi: 10.1016/j.scr.2020.101786. Epub 2020 May 28. Stem Cell Res. 2020. PMID: 32485642 Free article.
Predictors of mortality in patients with hereditary hemorrhagic telangiectasia.
Thompson KP, Nelson J, Kim H, Pawlikowska L, Marchuk DA, Lawton MT, Faughnan ME; Brain Vascular Malformation Consortium HHT Investigator Group. Thompson KP, et al. Orphanet J Rare Dis. 2021 Jan 6;16(1):12. doi: 10.1186/s13023-020-01579-2. Orphanet J Rare Dis. 2021. PMID: 33407668 Free PMC article.
European Reference Network for Rare Vascular Diseases (VASCERN): When and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)?
Dupuis-Girod S, Shovlin CL, Kjeldsen AD, Mager HJ, Sabba C, Droege F, Fargeton AE, Fialla AD, Gandolfi S, Hermann R, Lenato GM, Manfredi G, Post MC, Rennie C, Suppressa P, Sure U; ePag group; Buscarini E. Dupuis-Girod S, et al. Among authors: mager hj. Eur J Med Genet. 2022 Oct;65(10):104575. doi: 10.1016/j.ejmg.2022.104575. Epub 2022 Aug 5. Eur J Med Genet. 2022. PMID: 35940549 Free article.
The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care.
Shovlin CL, Buscarini E, Sabbà C, Mager HJ, Kjeldsen AD, Pagella F, Sure U, Ugolini S, Torring PM, Suppressa P, Rennie C, Post MC, Patel MC, Nielsen TH, Manfredi G, Lenato GM, Lefroy D, Kariholu U, Jones B, Fialla AD, Eker OF, Dupuis O, Droege F, Coote N, Boccardi E, Alsafi A, Alicante S, Dupuis-Girod S. Shovlin CL, et al. Among authors: mager hj. Eur J Med Genet. 2022 Jan;65(1):104370. doi: 10.1016/j.ejmg.2021.104370. Epub 2021 Nov 1. Eur J Med Genet. 2022. PMID: 34737116 Free article.
26 results